loading...| Preferred Name | epidermolysis bullosa simplex | |
| Synonyms |
Epidermolysis bullosa simplex |
|
| Definitions |
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_4644 |
|
| database_cross_reference |
OMIM:601001 UMLS_CUI:C0079298 ICD10CM:Q81.0 SNOMEDCT_US_2020_03_01:205585003 OMIM:615425 MESH:D016110 GARD:10752 NCI:C84692 ORDO:304 |
|
| has exact synonym |
Epidermolysis bullosa simplex |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:4644 |
|
| imported from | ||
| in_subset | ||
| label |
epidermolysis bullosa simplex |
|
| notation |
DOID:4644 |
|
| prefLabel |
epidermolysis bullosa simplex |
|
| textual definition |
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. |
|
| subClassOf |